Phone interview for ATRT families with Dr. Jaclyn Biegel of CHOP - 12/3 @ 7PM ET



Jeff Shaddix, Jonathan Shaddix's dad, has talked with Dr. Jaclyn Biegel, the
leading expert in genetics of ATRT and she has graciously agreed to do a
telephone conference with ATRT families. More information can be found on the
Cancer Family Forum webpage
http://www.cancerfamily.org/forum/showthread.php?t=40.

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Your Cancer Family will be hosting a phone interview with Dr. Jaclyn Biegel of
Children's Hospital of Philadelphia on December 3 at 7:00PM ET. Dr. Biegel is
the leading expert in the United States (and possibly the world) regarding the
biology and genetics of AT/RT. This will be an open-invitation event, and anyone
with an interest in AT/RT can dial in and participate. I will provide a
toll-free call in number and passcode once they are established. If you are
interested in joining in the interview, please email me, send me a private
message at shadmanj@..., or post up any questions you would like to ask
Dr. Biegel. I will provide her with a list of the questions I have received a
couple weeks in advance so she may have time to research the questions and have
the information you are requesting in front of her to provide the best possible
answer. Even if you do not have a question to ask, and simply want to listen in,
please let me know so I can have an idea of how many phone connections to
request for the interview.Please pass the word to anyone you believe may have an
interest in learning more about Dr. Biegel's research.From Dr. Biegel's CHOP
website:





Research Summary:I am a cancer geneticist with clinical and laboratory research
interests. I am investigating the genetics of pediatric solid tumors,
specifically the changes in brain tumors that play a role in the initiation or
progression of disease. My goal in this effort is to improve the methods for
identifying chromosomal changes in tumor biopsies so they can be used in a
clinical diagnostic and prognostic setting. I am also investigating the region
of chromosome 22 involved in the development of the highly malignant rhabdoid
tumors of the kidney and central nervous system. The identification of INI1, a
tumor suppressor gene for rhabdoid tumors, will facilitate the design of
sensitive diagnostic tests and ultimately improved treatment protocols.My
colleagues and I have recently shown that deletion and mutation of the INI1
gene, which maps to chromosome band 22q11.2, is associated with rhabdoid tumors
of the brain, kidney and soft tissues. The identification of germline mutations
of INI1 in several patients suggests that they have a genetic predisposition to
the development of the rhabdoid tumors. Mutation studies in families of these
children will allow us to determine if the germline mutations are inherited and
if additional family members are at risk for developing rhabdoid tumors.
Additional functional studies of INI1 are ongoing in collaboration with other
scientists.Selected Publications: Biegel JA, Zhou JY, Rorke LB, Stenstrom C,
Wainwright LM, Fogelgren B; Germ-line and acquired mutations of INI1 in atypical
teratoid and rhabdoid tumors. Cancer Res 1999 Jan 1;59(1):74-9 Biegel JA;
Cytogenetics and molecular genetics of childhood brain tumors. Neuro-oncol. 1999
Apr;1(2):139-51. Biegel JA, Fogelgren B, Wainwright LM, Zhou JY, Bevan H, Rorke
LB; Germline INI1 mutation in a patient with a central nervous system atypical
teratoid tumor and a renal rhabdoid tumor. Genes Chromosomes Cancer 2000
May;28(1):31-7






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